K8K (p.Lys8Lys) variant of ACVRL1 (Activin receptor type-1-like)
K8K (p.Lys8Lys) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- rs776283937
- gnomAD 12-51912498-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 6.17
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available